Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and signs and symptoms of the disease. NPC is identified as a rare genetic disorder in which the body is unable to transport cholesterol and lipids inside the cells. This causes accumulation of these substances within various tissues of the body. These substances when gets collected in the brain tissues, it affects neurologic and psychiatric function.

The disease shows its first signs in mild-to-late childhood with the insidious onset of ataxia, dementia, and vertical supranuclear gaze palsy (VSGP). The occurrence of NPC can be confirmed by biochemical testing. NPC can also be diagnosed by skin test, in order to assess how the cells, move and store cholesterol. Furthermore, testing for the cells’ ability to modify cholesterol (cholesterol esterification test) has also been used for diagnostic purpose. Recently, blood-based testing for biomarkers (oxysterols, lysosphingolipids, bile acid metabolites) and molecular gene sequencing of NPC1 and NPC2 have replaced these methods.

It has been observed that regulatory bodies are granting designations to the pipeline drugs, in order to pace up the development process of these drugs. For instance, IntraBio Inc.’s IB1001 was granted Rare Pediatric Disease Designation by the USFDA in April 2018 and Orphan Drug Designation by USFDA and EMA in February 2018 and April 2017, respectively. Similarly, Orphazyme A/S’s arimoclomol has been granted Orphan Drug Designation (in January 2015), Fast-Track Designation (in June 2016), and Rare Pediatric Disease Designation (in January 2018) by the USFDA.

Niemann-Pick Disease Type C (NPC) Therapeutics - Pipeline Analysis 2019, Clinical Trials and Results, Patents, Designations, Collaborations and Other Developments" at:https://www.pharmaproff.com/report/npc-therapeutics